Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1057G
Back to variants list

BRCA1

NM_007294.4:p.S1057G

Associated Papers

Benchmarking of SpCas9 variants enables deeper base editor screens of BRCA1 and BCL2.

Sangree AK et al.

Nature Communications, 2022

35288574 (PubMed )
Supplement: 41467_2022_28884_MOESM10_ESM.xlsx › WT-ABE_library_annotation

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Huang C et al.

Genome Biology, 2021

33691754 (PubMed )
Supplement: 13059_2021_2305_MOESM7_ESM.xlsx › Table_S6

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31911673 (PubMed )
Supplement: 41436_2019_740_MOESM2_ESM.xlsx › 1._Used_in_analysis

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM2_ESM.xls › Sheet1

Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Bishop MR et al.

Plos One, 2020

32866190 (PubMed )
Supplement: pone.0238295.s002.xlsx › S2_Table

A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.

Bishop MR et al.

Plos One, 2019

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T et al.

Cancer Research, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."